ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826011555
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79550
ClinVar RCV:
RCV000059538
RCV001246264
ClinVar Variation:
68658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Gly177Glu
CA285231
NM_001165964.3:c.530G>A